Annotation Detail

Information
Associated Genes
ELAC2
Associated Variants
ELAC2 MUTATION
ELAC2 MUTATION
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 )
Associated Disease
Prostate cancer, hereditary, 2
Source Database
DisGeNET
Description
Association of HPC2/ELAC2 genotypes and prostate cancer.
Pubmed
10986046
Original source reporting the Gene Disease association
UNIPROT
DisGENET score for the Gene Disease association
0.24
Year of publication
2000
Drugs